A Case of Congenital Erythropoietic Porphyria without Haemolysis
  • Kapil Kumar Garg
    Department of Internal Medicine, PGIMS, Rohtak
  • Hapreet Singh
    Department of Internal Medicine, PGIMS, Rohtak


Congenital Erythropoietic Porphyria, Porphyrins, UROS


Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther's disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sun-exposed areas, atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth without neurological involvement. The only available prophylactic treatment for CEP is total avoidance of sunlight. A high degree of suspicion is required for the diagnosis. Early diagnosis is very important to prevent subsequent damage.



  • Bickers DR, Frank J. The porphyrias. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick's dermatology in general medicine. 7th ed. New York: McGraw Hill; 2008, p. 1228–1256.
  • Koley S, Saoji V. Congenital erythropoietic porphyria: two case reports. Indian J Dermatol 2011;56:94–97.
  • Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500–507.
  • Dawe SA, Peters J, Du Vivier A, Creamer JD. Congenital erythropoietic porphyria: dilemmas in present day management. Clin Exp Dermatol 2002;27:680–683.
  • Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 2002;117:779–795
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    Published: 2016-09-22
    Issue: Vol. 3 No. 7 (view)

    How to cite:
    Garg KK, Singh H. A Case of Congenital Erythropoietic Porphyria without Haemolysis. EJCRIM 2016;3 doi:10.12890/2016_000497.